rs781461462

This is a variant in the PARD3 gene that changes a proline to an glutamine.

ClinVar annotation

Pathogenic
1 submitter1 publication

Neural tube defect (NTD)

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About PARD3

This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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